Branchiootorenal Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Name: Branchiootorenal Syndrome 2 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Bor2 ⁵⁶ ¹² ⁷³

Branchio-Oto-Renal Syndrome Type 2 ⁷³

Branchiootorenal Syndrome, Type 2 ³⁹

Branchio-Oto-Renal Dysplasia 2 ⁷³

Branchiootorenal Dysplasia 2 ⁷³

Bor Syndrome 2 ⁷³

Characteristics:

HPO:

³¹

branchiootorenal syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111424

OMIM ⁵⁶ 610896

MeSH ⁴³ D019280

MedGen ⁴¹ C1970479

SNOMED-CT via HPO ⁶⁸ 103276001 15188001 204949001 more

UMLS ⁷¹ C1970479

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Summaries for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot : ⁷³ Branchiootorenal syndrome 2: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

MalaCards based summary : Branchiootorenal Syndrome 2, also known as bor2, is related to branchiootorenal spectrum disorder and papillorenal syndrome. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin, and related phenotypes are hearing impairment and renal insufficiency

Disease Ontology : ¹² A branchiootorenal syndrome that has material basis in heterozygous mutation in SIX5 on chromosome 19q13.32.

More information from OMIM: 610896

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Related Diseases for Branchiootorenal Syndrome 2

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1	Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

Diseases related to Branchiootorenal Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	branchiootorenal spectrum disorder	10.1	SIX5 SIX1 EYA1
2	papillorenal syndrome	10.1	SIX5 SIX1 EYA1
3	myotonic dystrophy	10.0	SIX5 LOC107075317 DM1-AS
4	branchiootorenal syndrome 1	10.0	SIX5 SIX1 EYA1
5	townes-brocks syndrome	10.0	SIX5 SIX1 EYA1
6	deafness, autosomal dominant 10	10.0	SIX1 EYA1
7	branchiootic syndrome	10.0	SIX5 SIX1 EYA1
8	cakut	9.9	SIX5 SIX1 EYA1
9	vesicoureteral reflux 1	9.9	SIX5 SIX1 EYA1
10	renal hypoplasia	9.8	SIX1 EYA1
11	branchiootorenal syndrome	9.7	SIX5 SIX1 LOC107075317 EYA1 DM1-AS

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 2:

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Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

³¹

#	Description	HPO Source Accession
1	hearing impairment ³¹	HP:0000365
2	renal insufficiency ³¹	HP:0000083
3	preauricular skin tag ³¹	HP:0000384
4	renal dysplasia ³¹	HP:0000110
5	hemifacial hypoplasia ³¹	HP:0011332

Clinical features from OMIM:

610896

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Drugs & Therapeutics for Branchiootorenal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 2

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Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

#	Genetic test	Affiliating Genes
1	Branchiootorenal Syndrome 2 ²⁹	SIX5

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Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

⁴⁰

Skin

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Publications for Branchiootorenal Syndrome 2

Articles related to Branchiootorenal Syndrome 2:

#	Title	Authors	PMID	Year
1	Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. ⁶ ⁵⁶	Krug P...Heidet L	21280147	2011
2	Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. ⁶ ⁵⁶	Hoskins BE...Hildebrandt F	17357085	2007
3	A map of the interactome network of the metazoan C. elegans. ⁵⁶	Li S...Vidal M	14704431	2004
4	Branchiootorenal Spectrum Disorder ⁶	Smith RJH	20301554	1999
5	Pumpkin rootstock improves the growth and development of watermelon by enhancing uptake and transport of boron and regulating the gene expression. ⁶¹	Shireen F...Bie Z	32563044	2020
6	Linking hydrogen-mediated boron toxicity tolerance with improvement of root elongation, water status and reactive oxygen species balance: a case study for rice. ⁶¹	Wang Y...Shen W	27616208	2016
7	Roles of BOR2, a boron exporter, in cross linking of rhamnogalacturonan II and root elongation under boron limitation in Arabidopsis. ⁶¹	Miwa K...Fujiwara T	24114060	2013
8	Combination of high-dose melphalan and bortezomib as conditioning regimen for autologous peripheral blood stem cell transplantation in multiple myeloma. ⁶¹	Miyamoto T...Akashi K	23877150	2013
9	[Cloning a gene related to resistance to TuMV in cabbage]. ⁶¹	Cao BH...Yang ZH	12143316	2002
10	Allelism of pleiotropic drug resistance in Saccharomyces cerevisiae. ⁶¹	Saunders GW...Rank GH	6762918	1982

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Genes for Branchiootorenal Syndrome 2

Genes related to Branchiootorenal Syndrome 2 (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SIX5	SIX Homeobox 5	Protein Coding	1324.29	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17357085 20301554 21280147
2	LOC107075317	Origin Of Replication In DMPK Trinucleotide Repeat Region	Biological Region	7.71	GeneCards inferred via : Variants (show sections)
3	DM1-AS	DM1 Locus Antisense RNA	RNA Gene	7.16	GeneCards inferred via : Variants (show sections)
4	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	6.37	DISEASES inferred ¹⁵
5	SIX1	SIX Homeobox 1	Protein Coding	5.71	DISEASES inferred ¹⁵
6	TAF7	TATA-Box Binding Protein Associated Factor 7	Protein Coding	5.68	DISEASES inferred ¹⁵
7	HPCAL1	Hippocalcin Like 1	Protein Coding	5.66	DISEASES inferred ¹⁵
8	RPLP1	Ribosomal Protein Lateral Stalk Subunit P1	Protein Coding	5.37	DISEASES inferred ¹⁵
9	HPCA	Hippocalcin	Protein Coding	5.32	DISEASES inferred ¹⁵
10	NLRX1	NLR Family Member X1	Protein Coding	5.28	DISEASES inferred ¹⁵
11	MUSTN1	Musculoskeletal, Embryonic Nuclear Protein 1	Protein Coding	5.24	DISEASES inferred ¹⁵
12	GPRC6A	G Protein-Coupled Receptor Class C Group 6 Member A	Protein Coding	5.15	DISEASES inferred ¹⁵
13	ZZZ3	Zinc Finger ZZ-Type Containing 3	Protein Coding	5.1	DISEASES inferred ¹⁵
14	SCTR	Secretin Receptor	Protein Coding	5.1	DISEASES inferred ¹⁵
15	ZNF143	Zinc Finger Protein 143	Protein Coding	5.07	DISEASES inferred ¹⁵

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Variations for Branchiootorenal Syndrome 2

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SIX5	NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)	SNV	Pathogenic	8599	rs80356462	19:46270331-46270331	19:45767073-45767073
2	SIX5	NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)	SNV	Pathogenic	8600	rs80356463	19:46270124-46270124	19:45766866-45766866
3	SIX5	NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)	SNV	Conflicting interpretations of pathogenicity	8598	rs80356461	19:46271631-46271631	19:45768373-45768373
4	SIX5	NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu)	SNV	Uncertain significance	829852		19:46269177-46269177	19:45765919-45765919
5	SIX5	NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)	SNV	Uncertain significance	8601	rs80356464	19:46269324-46269324	19:45766066-45766066
6	SIX5	NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)	SNV	Uncertain significance	224344	rs1057519372	19:46269956-46269956	19:45766698-45766698
7	SIX5	NM_175875.5(SIX5):c.2077G>A (p.Val693Met)	SNV	Benign	262913	rs2341097	19:46268902-46268902	19:45765644-45765644

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SIX5	p.Ala158Thr	VAR_032941	rs80356461
2	SIX5	p.Ala296Thr	VAR_032942	rs80356462
3	SIX5	p.Gly365Arg	VAR_032943	rs80356463
4	SIX5	p.Thr552Met	VAR_032944	rs80356464

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Expression for Branchiootorenal Syndrome 2

Search GEO for disease gene expression data for Branchiootorenal Syndrome 2.

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Pathways for Branchiootorenal Syndrome 2

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GO Terms for Branchiootorenal Syndrome 2

Cellular components related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:0005667	8.8	TAF7 SIX5 SIX1

Biological processes related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	9.91	ZNF143 TAF7 SIX5 SIX1 EYA1
2	branching involved in ureteric bud morphogenesis	GO:0001658	9.49	SIX1 EYA1
3	ureteric bud development	GO:0001657	9.48	SIX1 EYA1
4	regulation of neuron differentiation	GO:0045664	9.46	SIX1 EYA1
5	cochlea morphogenesis	GO:0090103	9.43	SIX1 EYA1
6	middle ear morphogenesis	GO:0042474	9.4	SIX1 EYA1
7	pharyngeal system development	GO:0060037	9.37	SIX1 EYA1
8	neuron fate specification	GO:0048665	9.32	SIX1 EYA1
9	aorta morphogenesis	GO:0035909	9.26	SIX1 EYA1
10	otic vesicle development	GO:0071599	9.16	SIX1 EYA1
11	anatomical structure development	GO:0048856	9.13	SIX5 SIX1 EYA1
12	positive regulation of secondary heart field cardioblast proliferation	GO:0072513	8.62	SIX1 EYA1

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Sources for Branchiootorenal Syndrome 2

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Branchiootorenal Syndrome 2 (BOR2)

Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Branchiootorenal Syndrome 2

Related Diseases for Branchiootorenal Syndrome 2

Diseases in the Branchiootorenal Syndrome family:

Diseases related to Branchiootorenal Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 2:

Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

Clinical features from OMIM:

Drugs & Therapeutics for Branchiootorenal Syndrome 2

Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

Publications for Branchiootorenal Syndrome 2

Articles related to Branchiootorenal Syndrome 2:

Genes for Branchiootorenal Syndrome 2

Genes related to Branchiootorenal Syndrome 2 (1 elite genes):

Variations for Branchiootorenal Syndrome 2

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

Expression for Branchiootorenal Syndrome 2

Pathways for Branchiootorenal Syndrome 2

GO Terms for Branchiootorenal Syndrome 2

Cellular components related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Branchiootorenal Syndrome 2